Subject: Favism (again) (long, technical)

From: [email-masked]
Date: 3 Feb 94 20:27:12 -0600

I got several requests for more information after posting something about
favism, an inherited genetic disorder that can kill someone who eats
fava beans.  This is from the Online Mendelian Inheritance in Man (OMIM)
data base at John's Hopkins, and corresponds to McKusick's compendia
on Mendelian Inheritance in Man (many revisions).

     Kay Klier  Biology Dept  UNI

Subj:	134700 FAVISM

*RECORD*
*FIELD* NO
134700

*FIELD* TI
134700 FAVISM

*FIELD* TX
Hemolytic anemia following ingestion of the bean of Vicia fava or
exposure to its pollen is conditioned primarily by a deficiency of
erythrocyte glucose-6-phosphate dehydrogenase, an X-linked genetic
trait.  Vicia fava apparently produces a substance that induces
hemolysis of enzyme-deficient red cells (Mager et al., 1965).  In
areas where the enzyme deficiency is frequent, favism shows familial
aggregation probably not accounted for by the familial occurrence of
the enzyme deficiency alone.  Stamatoyannopoulos et al. (1966)         |
interpreted studies in Greece as indicating the presence of an
autosomal gene that in heterozygous state enhances the susceptibility
to favism of G6PD-deficient persons.  Beutler (1970) suggested that
DOPA-quinone is the active hemolytic principle in fava beans. (Fava
beans are the main commercial source of L-DOPA.)  Differences in
susceptibility to favism by G6PD-deficient persons may be related to
differences in the enzymatic system that converts L-DOPA to DOPA-
quinone.  A genetic mechanism for susceptibility to favism on the
part of G6PD-deficient persons is suggested by the finding of Bottini
et al. (1971) that persons with favism are more often of a particular
red cell acid phosphatase type than would be expected on the basis of
population frequencies.

*FIELD* RF
Beutler, E.: L-DOPA and favism. (Editorial). Blood. 36: 523-525,       |
1970.

Bottini, E.; Lucarelli, P.; Agostino, R.; Palmarino, R.; Businco, L.
and Antognoni, G.: Favism: association with erythrocyte acid
phosphatase phenotype. Science. 171: 409-411, 1971.                    |

Mager, J.; Glaser, G.; Razin, A.; Izak, G.; Bien, S. and Noam, M.:
Metabolic effects of pyrimidines derived from fava bean glycosides on
human erythrocytes deficient in glucose-6-phosphate dehydrogenase.
Biochem. Biophys. Res. Commun. 20: 235-240, 1965.

Stamatoyannopoulos, G.; Fraser, G. R.; Motulsky, A. G.; Fessas, P.;
Akriva

kis, A. and Papayannopoulou, T.: On the familial predisposition
to favism. Am. J. Hum. Genet. 18: 253-263, 1966.                    

_______________

   +

Other entries seem to indicate that being heterozygous for favism
(having one copy of the normal gene and one copy of the favism gene)
can help protect a person from certain blood parasites like malaria.